X‐linked dominant charcot–marie–tooth neuropathy with 15 cases in a family genetic linkage study

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Abstract
A large CMT family with 5 affected males and 10 affected females of 37 members in four generations was investigated by recombinant DNA studies. The proband patient in his original desscription of the pedigree indicated male‐to‐ male transmission in one of his relatives, suggesting autosomal dominant inheritance. The genetic linkage study between the CMT locus and the loci of six markers mapped on chromosome 1 (FY, APCS, AT3, REN, APOA2, and GBA) gave negative results. These findings prompted further pedigree investigation which proved that male‐to‐male transmission was not present. A genetic linkage study with DXYS1, which is a DNA marker mapped on the long arm of the chromosome X, revealed tight linkage with ẑ = 3.15 at θ = 0.10.